MCID: PRG129
MIFTS: 17

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3

Categories: Genetic diseases

Aliases & Classifications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

MalaCards integrated aliases for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 57 75 29 6
Progressive External Ophthalmoplegia, Autosomal Recessive 3 57 75
Peob3 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in mid-forties
two finnish sisters have been reported (last curated august 2016)


HPO:

32
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

UniProtKB/Swiss-Prot : 75 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3: A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB3 patients manifest adult-onset progressive external ophthalmoplegia and progressive proximal muscle weakness associated with muscle atrophy.

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3, is also known as progressive external ophthalmoplegia, autosomal recessive 3. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 is TK2 (Thymidine Kinase 2, Mitochondrial). Affiliated tissues include skeletal muscle, and related phenotypes are ptosis and progressive external ophthalmoplegia

Description from OMIM: 617069

Related Diseases for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Symptoms & Phenotypes for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
external ophthalmoplegia, progressive

Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
mitochondrial myopathy
ragged red fibers seen on muscle biopsy
muscle weakness, proximal
myopathic features seen on emg
decreased activities of mitochondrial-encoded respiratory chain complexes
more
Laboratory Abnormalities:
increased serum creatine kinase, mild
increased serum lactate, mild

Voice:
dysarthria

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Head And Neck Face:
facial muscle weakness


Clinical features from OMIM:

617069

Human phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 progressive external ophthalmoplegia 32 HP:0000590
3 dysarthria 32 HP:0001260
4 dysphagia 32 HP:0002015
5 increased serum lactate 32 HP:0002151
6 skeletal muscle atrophy 32 HP:0003202
7 elevated serum creatine phosphokinase 32 HP:0003236
8 scapular winging 32 HP:0003691
9 proximal muscle weakness 32 HP:0003701
10 mitochondrial myopathy 32 HP:0003737
11 decreased activity of mitochondrial respiratory chain 32 HP:0008972
12 facial palsy 32 HP:0010628

Drugs & Therapeutics for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Search Clinical Trials , NIH Clinical Center for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3

Genetic Tests for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Genetic tests related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3:

# Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 29 TK2

Anatomical Context for Progressive External Ophthalmoplegia with Mitochondrial Dna...

MalaCards organs/tissues related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3:

41
Skeletal Muscle

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

UniProtKB/Swiss-Prot genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3:

75
# Symbol AA change Variation ID SNP ID
1 TK2 p.Arg183Trp VAR_023791 rs137886900
2 TK2 p.Thr188Ala VAR_076984 rs281865495

ClinVar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TK2 NM_004614.4(TK2): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic rs137886900 GRCh37 Chromosome 16, 66551110: 66551110
2 TK2 NM_004614.4(TK2): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic rs137886900 GRCh38 Chromosome 16, 66517207: 66517207
3 TK2 NM_004614.4(TK2): c.562A> G (p.Thr188Ala) single nucleotide variant Pathogenic rs281865495 GRCh37 Chromosome 16, 66551095: 66551095
4 TK2 NM_004614.4(TK2): c.562A> G (p.Thr188Ala) single nucleotide variant Pathogenic rs281865495 GRCh38 Chromosome 16, 66517192: 66517192

Expression for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Search GEO for disease gene expression data for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3.

Pathways for Progressive External Ophthalmoplegia with Mitochondrial Dna...

GO Terms for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Sources for Progressive External Ophthalmoplegia with Mitochondrial Dna...

3 CDC
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10 dbSNP
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17 ExPASy
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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